#HCSM Review - Feb. 13, 2014, #RareDisease Edition

The Feb. 13, 2014 edition focuses on Rare Disease Day, an annual, awareness-raising event marked around the world that aims to educate the general public and decision-makers about rare diseases and their impact on patients’ lives. Rare Disease Day will be held on Feb. 28.

A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time. A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2,000. There are approximately 7,000 rare diseases. The lack of scientific knowledge and quality information on rare diseases often results in a delay in diagnosis and difficulties accessing appropriate care.

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Living in the Light — from Levi Gershkowitz

"These narratives are shared by individuals facing the challenges of life affected by rare genetic disease. They are aimed to promote an increase in public awareness about the prevalence of rare diseases, as well as an increase in patient advocacy."

MODDERN Cures: Who, What, and Why? — from Amy O'Connor

"More than 30 million Americans live with a rare disease, many of which have few or no treatment options. But there’s hope on the horizon. Public policies like the MODDERN Cures Act could incentivize the development of treatments and cures for unmet medical needs - such as autoimmune diseases, neurological conditions, cancer, and rare diseases."

#RarePOV Conversation Generates Strong Enthusiasm for RDD — from Stephanie Fischer

"Recap of last week’s #RarePOV tweetchat during which leading rare disease advocacy organizations and individual patient advocates came together to share resources and plans for the upcoming international Rare Disease Day. More than 100 individuals and organizations participated, generating more than 680 tweets in the hour-long conversation."

One in Billions: Rare Disease Day 2014 — from Emily Bradley

"One rheumatologist explained to me that treatment options for many rare disease patients sit, waiting, behind an “unbreakable glass wall.” Patients suffer for years—many die—because they cannot afford the few treatments available. With just enough income to keep me at the poverty line, I was unable to receive full funding assistance. I fought for that medication the way I fought to get out of bed. I fought to find resources, help, anything, anyone, while I also fought to brush my teeth every morning. I found myself constantly internally screaming, why does no one fight for me or with me?"

Rare Diseases 2.0 - A Business-Oriented Blueprint for the "RARE" Universe — from Yoni Maisel
"Collectively we have gained the attention of those who can influence and impact our futures. Opportunities exist like never before. But with almost 7,000 Rare Diseases, there will not be opportunity for all."

Para...what? — from lovehopeandcourage
"In March our eldest daughter Tayla, who was just 12 at the time, was diagnosed with a rare neuroendocrine tumour called a Paraganglioma, a Para what I hear you say…exactly! This is something we were never, ever expecting or would have ever dreamed of going through, again."

Treating illness and preventing disease with genetic testing — from The Conversation
"Genome sequencing has the potential to improve the diagnosis of conditions caused by changes in the DNA and indicate what treatments may be most effective. Importantly, it may also red-flag treatments likely to cause adverse reactions."

Dr. Groft of NIH on New Hope for Rare Disease Research and Treatments — from PhRMA

"While there has been amazing progress, the road ahead is still at times daunting as we strive to find better, quicker and less expensive methods to translate research discoveries into new interventions that meet safety and efficacy requirements. The encouraging news is that the rare diseases community appears stronger than ever, and there has been no better time in history to build on existing momentum and resources."

What are the biggest challenges for the rare disease community in 2014? — from pharmaphorum

"Patients can't benefit from new treatments and other medical advances if they can't get an accurate diagnosis. And diagnosis clearly remains an issue for the rare disease community."

Two Children, One Rare Disease and Their Mother Who is Making a Difference — from Parade
"Jana Monaco misses memories of what might have been. Her son’s first day of kindergarten. His Little League games. Prom pictures. The life experiences we all take for granted ended abruptly for Stephen Monaco almost 13 years ago when a rare disease, isovaleric acidemia (IVA), left him permanently disabled, both physically and intellectually, at the age of 3."

Advocates Fight for Justina Pelletier, Teen Held by State in Psych Ward — from ABC News
"Justina was diagnosed with somatoform pain disorder, a psychiatric condition when a person experiences physical pain for which no known medical explanation can be found, according to her family. The case highlights a growing concern among those with rare diseases and autoimmune disorders that physical symptoms that cannot be explained will be dismissed by doctors as psychosomatic."

Look to Mary Pat Whaley at Manage My Practice for the next #HCSM Review on March 5, 2014.